Variant report

Variant	rs58171425
Chromosome Location	chr2:63188392-63188393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:63187010-63188620	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
EHBP1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10176805	1.00[EUR][1000 genomes]
rs10180262	1.00[EUR][1000 genomes]
rs10187907	1.00[EUR][1000 genomes]
rs10199938	1.00[EUR][1000 genomes]
rs10203623	1.00[EUR][1000 genomes]
rs10203845	1.00[EUR][1000 genomes]
rs11125951	1.00[EUR][1000 genomes]
rs13402830	1.00[EUR][1000 genomes]
rs13403570	1.00[EUR][1000 genomes]
rs13408152	1.00[EUR][1000 genomes]
rs13408991	1.00[EUR][1000 genomes]
rs13419820	1.00[EUR][1000 genomes]
rs13423930	1.00[EUR][1000 genomes]
rs13424984	1.00[EUR][1000 genomes]
rs13426053	1.00[EUR][1000 genomes]
rs13432479	1.00[EUR][1000 genomes]
rs55650545	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738177	0.83[AMR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57320842	1.00[EUR][1000 genomes]
rs59234039	1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs61271282	1.00[EUR][1000 genomes]
rs61378194	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890504	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890505	1.00[EUR][1000 genomes]
rs72890506	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63142400-63190800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:63151400-63194200	Weak transcription	Esophagus	oesophagus
3	chr2:63151400-63194200	Weak transcription	Fetal Brain Male	brain
4	chr2:63151400-63200800	Weak transcription	Fetal Stomach	stomach
5	chr2:63151400-63208800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:63154400-63209000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:63155400-63209000	Weak transcription	Psoas Muscle	Psoas
9	chr2:63157400-63188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:63157400-63207400	Weak transcription	Pancreas	Pancrea
11	chr2:63160200-63190000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:63162000-63196800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:63162000-63199800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:63165200-63209200	Weak transcription	Aorta	Aorta
15	chr2:63167000-63194000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:63167400-63200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:63167400-63206400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:63167600-63206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:63167600-63256000	Weak transcription	HSMMtube	muscle
20	chr2:63167800-63225800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:63168200-63220200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:63168800-63194000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:63169200-63206200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:63169200-63206600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:63169400-63196400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:63169600-63228800	Weak transcription	GM12878-XiMat	blood
27	chr2:63169800-63206200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:63169800-63208600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:63169800-63237000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:63170200-63208000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:63170400-63206200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:63170400-63255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:63171400-63209800	Weak transcription	Brain Anterior Caudate	brain
34	chr2:63171800-63208600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:63171800-63218600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:63171800-63233000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:63172000-63194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:63172000-63197600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:63172000-63207000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:63173800-63225800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:63174200-63206400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:63174200-63207400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:63174800-63191400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:63175000-63209000	Weak transcription	Fetal Thymus	thymus
45	chr2:63176200-63207200	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:63176200-63208800	Weak transcription	NH-A	brain
47	chr2:63176200-63220200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:63176400-63206200	Weak transcription	Primary T cells from cord blood	blood
49	chr2:63177800-63226800	Weak transcription	Hela-S3	cervix
50	chr2:63178600-63189800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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